Disorders of sex development

Gene: PAX8

Amber List (moderate evidence)

PAX8 (paired box 8)
EnsemblGeneIds (GRCh38): ENSG00000125618
EnsemblGeneIds (GRCh37): ENSG00000125618
OMIM: 167415, Gene2Phenotype
PAX8 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating as more evidence is required to support a gene-disease association.
Created: 1 Mar 2021, 1:46 p.m. | Last Modified: 1 Mar 2021, 1:46 p.m.
Panel Version: 2.23
Comment on publications: PMID: 25484916 describes a case of a patient with MRKH and hypothyroidism with a de novo deletion of 2q13-14.2 region (includes PAX8).

PMID: 31731040 describes a second case of a patient with MRKH and congenital thyroid gland hypoplasia with a de novo interstitial 2q12.1q14.1 deletion (the region includes PAX8).

In both PMID: 25484916 and 31731040, the authors theorise that PAX8 may be responsible.
Created: 1 Mar 2021, 1:45 p.m. | Last Modified: 1 Mar 2021, 1:45 p.m.
Panel Version: 2.22

Zornitza Stark (Australian Genomics)

I don't know

Variants in this gene are associated with congenital hypothyroidism.

5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS, suggesting this is phenotype expansion. Amber rating suggested due to limited case-level data.
Sources: Literature
Created: 12 Feb 2021, 4:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771
Tags
watchlist
OMIM
167415
Clinvar variants
Variants in PAX8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pax8 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: PAX8.

1 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PAX8 were set to 33434492

1 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PAX8 were changed from Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771

12 Feb 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PAX8 was added gene: PAX8 was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX8 were set to 33434492 Phenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Review for gene: PAX8 was set to AMBER